A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3979358



Internal ID19236753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:864090..864154hg38UCSC Ensembl
Outerchr17:767330..767394hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1117177
Supporting Variants
SamplesKWS2
Known GenesNXN
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3979358
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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